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Severe combined immunodeficiency disease

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Description

Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells.

ORDO

  • Mode of Inheritance

    VARIANTS

    58

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    Genes

    External Links

    • OMIM
    • Orphanet

      183660

    • HPO

      3124

    • Medgen

      C0085110

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